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Rare Disease Testing
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Participating Labs


Baylor

The Medical Genetics Laboratories at Baylor College of Medicine in Houston, Texas are recognized providers of state-of-the art diagnostics to the medical community for over 25 years. We offer comprehensive services for biochemical, cytogenetic, molecular cytogenetic, and DNA diagnostic testing for a broad range of genetic diseases. Our laboratories are continually developing new and improved genetic tests, with a proven track record for rapid translation of gene discoveries from our Department of Molecular and Human Genetics and elsewhere to the clinical setting. We provide access to board certified geneticists for consultation regarding interpretations of testing results. Detailed information regarding our laboratories can be accessed at the following website:
www.bcmgeneticlabs.org


Emory

Emory Genetics Laboratory, now part of the Department of Human Genetics, has been providing state-of-the-art genetic testing services for more than 30 years. Comprehensive biochemical and molecular genetic testing is available for metabolic diseases associated with newborn screening programs, including DNA sequencing for specific mutation analysis in galactosemia, PKU and MUSD. We are committed to rapid development of clinical tests for rare genetic diseases for which the gene has been cloned but clinical testing is not yet widely available. For more information regarding our testing services, please visit our web site at:
http://www.genetics.emory.edu/index.php


GeneDx

Established in March, 2000 by two prominent former NIH scientists, GeneDx, Inc. is a full service genetic testing and diagnosis company providing rapid DNA-based diagnostic services for more than 80 different rare hereditary disorders. The company serves the needs of patients, physicians, genetic counselors, and researchers worldwide. The vast majority of the tests offered by GeneDx are unavailable in any other CLIA-certified clinical laboratory. In addition, GeneDx provides confirmation of mutations identified in research laboratories, and custom prenatal and carrier testing services.
www.genedx.com


Hospital for Sick Children

The Molecular Genetics Laboratory is situated in the Department of Laboratory Medicine at the world renowned Hospital for Sick Children in Toronto. The laboratory has been providing clinical service for over 15 years and employs state-of-the-art technologies to offer DNA based diagnosis, carrier detection and prenatal testing. Our laboratory specializes in diseases affecting children with testing available for a continually expanding list of genetic diseases. All staff members are fully accredited and available for consultation on appropriate testing, interpretation of results and any follow up testing. The laboratory is licensed by the Ontario Ministry of Health, Canada, certified by CLIA (United States) and is accredited by the College of American Pathologists. For more information on testing services and sample submission please visit our web site at:
www.sickkids.ca/molecular


University of California at Los Angeles (UCLA)

The Orphan Disease Testing Center (ODTC) at UCLA was established to provide rapid and accurate molecular diagnostic services to relieve the burden on research laboratories that are working on rare hereditary disorders. The primary intent of this service is to provide validated confirmation of mutations identified in research laboratories which can then be reported directly to physicians and patients who request such information for clinical decision-making. Our laboratory is CLIA-certified, CAP-accredited, and overseen by board-certified directors, thereby ensuring compliance with governmental and professional regulations and quality assurance guidelines which are not required of research laboratories and are difficult for them to meet.
http://www.pathnet.medsch.ucla.edu/referral/ODT Center/odtc_main.htm
Email: ODTC@mednet.ucla.edu


University of Chicago Genetic Services Laboratories

The University of Chicago Genetic Services Laboratories, in the Department of Human Genetics at the University of Chicago, specializes in the diagnosis of rare orphan genetic diseases using state-of-the-art technology. The main goal of the UCGSL is to develop and provide state-of-the-art diagnostics for rare orphan genetic disease that is not readily available elsewhere, with a major focus on neurogenetic diseases. The laboratory was the first to offer customized diagnostics, wherein mutations identified in a research setting can be used for clinical testing purposes. The laboratory is dedicated to the translation of new genetic findings to new diagnostic tests. For more information regarding our testing services, please visit our web site at:
http://genes.uchicago.edu/genserlab.html